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MYOC c.1150G>C ;(p.D384H)
Variant ID: 1-171605430-C-G
NM_000261.1(
MYOC
):c.1150G>C;(p.D384H)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.
Rsc Advances
Shah, Bakht Ramin BR; Xu, Wei W; Mraz, Jan J
Publication Date: 2019-07-01
Variant appearance in text: MYOC: D384H
PubMed Link:
35515562
Variant Present in the following documents:
Main text
RA-009-C9RA03674A.pdf
View BVdb publication page
Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.
Scientific Reports
Huang, Chukai C; Xie, Lijing L; Wu, Zhenggen Z; Cao, Yingjie Y; Zheng, Yuqian Y; Pang, Chi-Pui CP; Zhang, Mingzhi M
Publication Date: 2018-03-14
Variant appearance in text: MYOC: 1150G>C; D384H
PubMed Link:
29540704
Variant Present in the following documents:
Main text
41598_2018_Article_22337.pdf
View BVdb publication page